39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.
29 citations
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January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
23 citations
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November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
22 citations
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April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
19 citations
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January 2018 in “Scientific Reports” This study provided the first proteome dataset for alopecia areata, revealing novel pathways in the disease mechanisms that may lead to new therapeutic targets.
17 citations
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February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
17 citations
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November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
9 citations
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January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
4 citations
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April 2018 in “Journal of Investigative Dermatology” This study suggests that hydroxypinacolone retinoate (HPR) may be an effective alternative to tretinoin for anti-aging skin treatments, offering similar collagen production benefits without increased skin irritation.
4 citations
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November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
4 citations
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November 2014 The skin protects the body, regulates temperature, senses touch, and makes vitamin D.
3 citations
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February 2017 in “Archives of Medical Science” This study found that finasteride treatment in male rats may lead to changes in connexin 43 expression in the testes of their offspring, potentially affecting spermatogenesis.
3 citations
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September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
2 citations
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March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used an evolutionary-rate-based method to identify genetic elements associated with reduced hair in mammals, finding a dichotomy between accelerated coding sequences and noncoding regulatory elements influencing hair growth.
1 citations
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April 2018 in “Journal of Investigative Dermatology” This study found that FZD2 is crucial for hair follicle formation and postnatal growth in mice and has a novel role in regulating early epidermal development, including stratification and cornification.
1 citations
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January 2014 in “International Journal of Trichology” This case report describes a 35-year-old woman with diffuse partial woolly hair occurring alongside epidermolysis bullosa with mottled pigmentation.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
1 citations
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January 2012 in “Elsevier eBooks” The document concludes that the skin is a complex organ providing protection, sensation, and healing, with challenges in treating conditions like itchiness.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential of ZDHHC17 methylation as a biomarker or therapeutic target in addressing skin aging, offering new insights into its molecular mechanisms.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
April 2018 in “Journal of Investigative Dermatology” This study reports that in aged mice, hair follicle dermal stem cells exhibit diminished self-renewal and preferential differentiation into dermal sheath cells, contributing to age-related hair loss.
April 2018 in “Journal of Investigative Dermatology” This study found that both Th1 and Th2 cytokine markers were elevated in the serum and skin of patients with alopecia areata, with Th2 markers more closely linked to disease severity.
April 2018 in “Journal of Investigative Dermatology” This study found that activation of the transcription factor Nrf2 in keratinocytes promotes wound healing in mice by expanding hair follicle stem cells, independent of changes in keratinocyte proliferation or migration.
April 2018 in “Journal of Investigative Dermatology” In this study, topical tofacitinib significantly promoted hair regrowth in mice, outpacing both minoxidil and controls over 21 days, with findings suggesting increased VEGF levels and decreased inflammation as possible mechanisms.
January 2012 in “Durham e-Theses (Durham University)” This study found that knock-down of keratin 15 in various cell lines affected cell spreading, morphology, migration, differentiation, and proliferation, suggesting its role in maintaining the stem cell nature of keratinocytes.
May 2004 in “Pediatric Dermatology” Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
84 citations
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June 2010 in “The Plant Cell” In this study, disruptions in phospholipase A2 activity in Arabidopsis thaliana significantly impaired the plasma membrane localization of PIN proteins, affecting auxin transport and root development.